CAD p.Asp1429=
c.4287T>C · rs10193746 · VCV1244439
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 25.1%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.449 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -4.4 |
| Overall | ||
| CADD | 2.168 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
25.1%
African / African-American · 18,829/74,958 alleles
Filtering AF
24.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 24.7%
Overall
2.39%
38,533/1,612,820 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 25.1% | 4 |
| Ashkenazi Jewishnot grpmax-eligible | 3.68% | 27 |
| Remaining individualsnot grpmax-eligible | 2.75% | 36 |
| Middle Eastern | 2.59% | 39 |
| Admixed American | 2.5% | 40 |
| European (non-Finnish) | 1.23% | 81 |
| Amishnot grpmax-eligible | 0.877% | 114 |
| Finnishnot grpmax-eligible | 0.661% | 151 |
| South Asian | 0.361% | 277 |
| East Asian | 0.00668% | 14,962 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CAD
- Protein
- p.Asp1429=
- Coding
- c.4287T>C
- MANE Select
- NM_004341
- dbSNP
- rs10193746
- Type
- single nucleotide variant
- Location
- chr2:27236496 (GRCh38)
- Gene constraint
- LOEUF 0.409 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 87.25 · 57 PDB
- Residue 1429
- the 'cpsase b' region; the mgs-like domain; the 'cpsase (carbamoyl phosphate synthase)' region
Similar variants
- CAD p.Asp1429Asn Uncertain significance ★ ⚠ same residue
- CAD p.Arg1789Ter Pathogenic ★★ same type
- CAD p.Arg1810Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
- CAD p.Arg191Ter Pathogenic ★★ same type
- CAD p.Gln1604Ter Likely pathogenic ★★ same type
- CAD p.Met33Arg Pathogenic ★★ same type
- CAD c.1254+6G>A Uncertain significance ★★ same type
- CAD c.2032-3C>T Uncertain significance ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cad-p-asp1429 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown